Wird geladen...

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies

Epigenetic regulation of gene expression is a source of genetic variation, which can mimic recessive mutations by creating transcriptional haploinsufficiency. Germline epimutations and genomic imprinting are typical examples, although their existence can be difficult to reveal. Genomic imprinting ca...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Zhou, Haiyan, Brockington, Martin, Jungbluth, Heinz, Monk, David, Stanier, Philip, Sewry, Caroline A., Moore, Gudrun E., Muntoni, Francesco
Format: Artigo
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2006
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1698560/
https://ncbi.nlm.nih.gov/pubmed/17033962
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!